Variant report

Variant	rs4865188
Chromosome Location	chr4:57975449-57975450
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:57972428-57977904	IMR90	lung:	n/a	n/a
2	CHD1	chr4:57973519-57977830	IMR90	lung:	n/a	n/a
3	POLR2A	chr4:57975161-57977444	HUVEC	blood vessel:	n/a	n/a
4	MXI1	chr4:57974888-57977913	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
ENSG00000238541	TF binding region
IGFBP7-AS1	TF binding region

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	esv3324890	chr4:57975020-57977568	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57970400-57975600	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr4:57971400-57976200	Active TSS	Stomach Smooth Muscle	stomach
3	chr4:57972400-57977800	Active TSS	Aorta	Aorta
4	chr4:57973200-57977000	Active TSS	Fetal Kidney	kidney
5	chr4:57973200-57977600	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr4:57973200-57977600	Active TSS	Psoas Muscle	Psoas
7	chr4:57973200-57977800	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr4:57973400-57975600	Active TSS	Adipose Nuclei	Adipose
9	chr4:57973400-57976600	Weak transcription	Fetal Heart	heart
10	chr4:57973400-57977200	Active TSS	Brain Hippocampus Middle	brain
11	chr4:57973400-57977600	Active TSS	Left Ventricle	heart
12	chr4:57973600-57977600	Active TSS	Right Ventricle	heart
13	chr4:57973600-57977800	Active TSS	Ovary	ovary
14	chr4:57973600-57977800	Active TSS	Right Atrium	heart
15	chr4:57973800-57975600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr4:57973800-57977000	Active TSS	HSMMtube	muscle
17	chr4:57973800-57977400	Active TSS	Brain Anterior Caudate	brain
18	chr4:57974000-57976400	Active TSS	NH-A	brain
19	chr4:57974200-57975800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr4:57974200-57977000	Active TSS	A549	lung
21	chr4:57974200-57977800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr4:57974400-57975600	Flanking Active TSS	HUVEC	blood vessel
23	chr4:57974400-57976800	Active TSS	Muscle Satellite Cultured Cells	--
24	chr4:57974400-57976800	Active TSS	NHLF	lung
25	chr4:57974400-57977600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr4:57974600-57975600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:57974600-57975800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr4:57974600-57975800	Active TSS	HMEC	breast
29	chr4:57974600-57976000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr4:57974600-57976600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:57974600-57977000	Active TSS	NHEK	skin
32	chr4:57974600-57977400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr4:57974800-57976000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr4:57974800-57976800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr4:57974800-57976800	Active TSS	Osteobl	bone
36	chr4:57974800-57977400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr4:57975000-57975600	Bivalent/Poised TSS	Liver	Liver
38	chr4:57975000-57975800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
39	chr4:57975000-57975800	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr4:57975000-57976800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
41	chr4:57975000-57977000	Active TSS	Rectal Smooth Muscle	rectum
42	chr4:57975000-57977000	Active TSS	HSMM	muscle
43	chr4:57975000-57977400	Active TSS	Colon Smooth Muscle	Colon
44	chr4:57975000-57977600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr4:57975000-57977800	Active TSS	Brain Substantia Nigra	brain
46	chr4:57975000-57977800	Active TSS	NHDF-Ad	bronchial
47	chr4:57975200-57975600	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr4:57975200-57975600	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
49	chr4:57975200-57975800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
50	chr4:57975200-57975800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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